rs121912292

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121912292(C;G)

Make rs121912292(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154765478

Gene

DKC1

is a	snp
is	mentioned by
dbSNP	rs121912292
dbSNP (classic)	rs121912292
ClinGen	rs121912292
ebi	rs121912292
HLI	rs121912292
Exac	rs121912292
Gnomad	rs121912292
Varsome	rs121912292
LitVar	rs121912292
Map	rs121912292
PheGenI	rs121912292
Biobank	rs121912292
1000 genomes	rs121912292
hgdp	rs121912292
ensembl	rs121912292
geneview	rs121912292
scholar	rs121912292
google	rs121912292
pharmgkb	rs121912292
gwascentral	rs121912292
openSNP	rs121912292
23andMe	rs121912292
SNPshot	rs121912292
SNPdbe	rs121912292
MSV3d	rs121912292
GWAS Ctlg	rs121912292

Max Magnitude

0

OMIM	300126
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912292(G;G)
Alt	rs121912292(G;G)
Reference	Rs121912292(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita X-linked
Variation	info
Gene	DKC1
CLNDBN	Dyskeratosis congenita X-linked
Reversed	0
HGVS	NC_000023.10:g.153993753C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000012340.25,

[PMID 9590285] X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.